Canonical Allele Identifier: CA1732870780

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931549_107931550delinsAG , CM000669.2:g.107931549_107931550delinsAG GRCh38
NC_000007.13:g.107571994_107571995delinsAG , CM000669.1:g.107571994_107571995delinsAG GRCh37
NC_000007.12:g.107359230_107359231delinsAG NCBI36
NG_023255.1:g.76810_76811delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4393-50_4393-49delinsCT (LAMB1) MANE Select ENSP00000222399.6:n.4393-50_4393-49delinsCT
ENST00000393561.6:c.3982-50_3982-49delinsCT (LAMB1) ENSP00000377191.2:n.3982-50_3982-49delinsCT
ENST00000468518.2:n.2627-50_2627-49delinsCT (LAMB1)
ENST00000468999.2:n.2541-50_2541-49delinsCT (LAMB1)
ENST00000474380.2:n.1208-50_1208-49delinsCT (LAMB1)
ENST00000676574.1:c.*309-50_*309-49delinsCT (LAMB1) ENSP00000503081.1:n.*309-50_*309-49delinsCT
ENST00000676744.1:n.189_190delinsCT (LAMB1)
ENST00000676777.1:c.4393-50_4393-49delinsCT (LAMB1) ENSP00000504756.1:n.4393-50_4393-49delinsCT
ENST00000677101.1:c.*4029-50_*4029-49delinsCT (LAMB1) ENSP00000503156.1:n.*4029-50_*4029-49delinsCT
ENST00000677144.1:c.*1212-50_*1212-49delinsCT (LAMB1) ENSP00000503049.1:n.*1212-50_*1212-49delinsCT
ENST00000677485.1:n.5617-50_5617-49delinsCT (LAMB1)
ENST00000677588.1:c.*624-50_*624-49delinsCT (LAMB1) ENSP00000502938.1:n.*624-50_*624-49delinsCT
ENST00000677793.1:c.4081-50_4081-49delinsCT (LAMB1) ENSP00000504020.1:n.4081-50_4081-49delinsCT
ENST00000677801.1:c.*222-50_*222-49delinsCT (LAMB1) ENSP00000503438.1:n.*222-50_*222-49delinsCT
ENST00000678232.1:n.4582-50_4582-49delinsCT (LAMB1)
ENST00000678310.1:n.2562-50_2562-49delinsCT (LAMB1)
ENST00000678698.1:c.*465-50_*465-49delinsCT (LAMB1) ENSP00000503198.1:n.*465-50_*465-49delinsCT
ENST00000678704.1:c.*2975-50_*2975-49delinsCT (LAMB1) ENSP00000504589.1:n.*2975-50_*2975-49delinsCT
ENST00000678892.1:c.*465-50_*465-49delinsCT (LAMB1) ENSP00000504841.1:n.*465-50_*465-49delinsCT
ENST00000679200.1:c.*465-50_*465-49delinsCT (LAMB1) ENSP00000503498.1:n.*465-50_*465-49delinsCT
ENST00000222399.10:c.4393-50_4393-49delinsCT (LAMB1) ENSP00000222399.6:n.4393-50_4393-49delinsCT
ENST00000393561.5:c.4465-50_4465-49delinsCT (LAMB1) ENSP00000377191.1:n.4465-50_4465-49delinsCT
ENST00000417551.5:c.*243_*244delinsAG (DLD) ENSP00000390667.1:n.*243_*244delinsAG
ENST00000468518.1:n.452-50_452-49delinsCT (LAMB1)
ENST00000474380.1:n.630-50_630-49delinsCT (LAMB1)
NM_002291.2:c.4393-50_4393-49delinsCT (LAMB1) NP_002282.2:n.4393-50_4393-49delinsCT
XM_017012201.1:c.4465-50_4465-49delinsCT (LAMB1) XP_016867690.1:n.4465-50_4465-49delinsCT
XR_001744756.1:n.5312-50_5312-49delinsCT (LAMB1)
NM_002291.3:c.4393-50_4393-49delinsCT (LAMB1) MANE Select NP_002282.2:n.4393-50_4393-49delinsCT